Results 71 to 80 of about 164,706 (214)

Genetics of Childhood Epilepsy

open access: yesPediatric Neurology Briefs, 2000
Genetic epilepsies are classified according to the mechanism of inheritance in three major groups: 1) Mendelian idiopathic epilepsies; 2) Non-Mendelian or “complex” epilepsies; and 3) Chromosomal disorders.
J Gordon Millichap
doaj   +1 more source

An alternative to Kitcher's theory of conceptual progress and his account of the change of the gene concept [PDF]

open access: yes, 2004
The present paper discusses Kitcher’s framework for studying conceptual change and progress. Kitcher’s core notion of reference potential is hard to apply to concrete cases.
Brigandt, Ingo
core  

Key mendelian variants [PDF]

open access: yesNature Genetics, 2015
Genetic comparison of the effects of mutant and wild-type alleles is a powerful way to define gene function. But those few disease-causing variants that provide qualitatively different insights into the disease mechanisms of more common sporadic diseases have the greatest translational value.
openaire   +2 more sources

Rheumatoid arthritis and risk of lung diseases in East Asians and Europeans: Evidence from a Mendelian randomization study

open access: yesSAGE Open Medicine
Background: Rheumatoid arthritis might increase the risk of lung diseases, such as interstitial lung disease and lung cancer. However, the causal relationships remained unclear.
Shengkai Zhang   +5 more
doaj   +1 more source

Physical activities and breast cancer: a Mendelian randomization study [PDF]

open access: yes
Introduction Previous research suggests a potential association between physical activity (PA) and breast cancer (BC), but the causal relationship remains uncertain.
Hao Liang   +5 more
core   +1 more source

Mendelian randomisation studies for causal inference in chronic obstructive pulmonary disease: A narrative review

open access: yesPulmonology
Background and objective Most non-randomised controlled trials are unable to establish clear causal relationships in chronic obstructive pulmonary disease (COPD) due to the presence of confounding factors.
Zizheng Chen   +11 more
doaj   +1 more source

Glucosamine supplementation contributes to reducing the risk of type 2 diabetes: Evidence from Mendelian randomization combined with a meta-analysis

open access: yesJournal of International Medical Research
Objective Observational studies on glucosamine supplementation and type 2 diabetes risk have shown inconsistent results, necessitating the use of Mendelian randomization to clarify the true causal relationship.
Shuai Zhou   +5 more
doaj   +1 more source

Genetic Markers as Instrumental Variables [PDF]

open access: yes
The use of genetic markers as instrumental variables (IV) is receiving increasing attention from epidemiologists, economists, statisticians and social scientists.
Frank Windmeijer   +4 more
core  

Shared etiology of Mendelian and complex disease supports drug discovery

open access: yesBMC Medical Genomics
Background Drugs targeting disease causal genes are more likely to succeed for that disease. However, complex disease causal genes are not always clear. In contrast, Mendelian disease causal genes are well-known and druggable.
Panagiotis N. Lalagkas   +1 more
doaj   +1 more source

Mendelian randomization: Principles and methods [PDF]

open access: yes
Mendelian randomization (MR) is a methodology for evaluating causality in observational studies. MR tries to find the fact that genotypes are not susceptible to reverse causation and confounding based on Mendel's law of inheritance.
WenJun Zhang
core  

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